L56F (p.Leu56Phe) variant of SCN2A (Q99250)
L56F (p.Leu56Phe) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- cosmic curated COSV99330
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- ESM-1b 1.00
- AlphaMissense 0.80
- Structural context available